Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

6 structures for Q9BUN8

Entry ID Method Resolution Chain Position Source
5GLF X-ray 225 A B/D/F/H 239-250 PDB
7CZB EM 380 A A/B/C/D 1-251 PDB
7Y4W EM 367 A W/X/Y/Z 1-251 PDB
7Y53 EM 361 A W/X/Y/Z 1-251 PDB
7Y59 EM 451 A W/X/Y/Z 1-251 PDB
AF-Q9BUN8-F1 Predicted AlphaFoldDB

173 variants for Q9BUN8

Variant ID(s) Position Change Description Diseaes Association Provenance
CA4862879
rs769701593
2 S>T No ClinGen
ExAC
gnomAD
rs759391999
CA4862878
3 D>N No ClinGen
ExAC
gnomAD
rs566765886
CA4862877
6 D>E No ClinGen
1000Genomes
ExAC
TOPMed
CA372120636
rs1281119062
7 W>L No ClinGen
TOPMed
gnomAD
rs369770184
CA4862876
7 W>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746849899
CA4862875
10 S>G No ClinGen
ExAC
gnomAD
TCGA novel 10 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1335634052
CA372120486
11 I>M No ClinGen
TOPMed
rs777366277
CA4862874
17 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4862872
rs747600019
21 A>P No ClinGen
ExAC
gnomAD
CA372120226
rs747600019
21 A>S No ClinGen
ExAC
gnomAD
rs1294476845
CA372120211
22 T>A No ClinGen
gnomAD
rs754574395
CA4862870
23 V>A No ClinGen
ExAC
gnomAD
CA4862871
rs546528242
23 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4862869
rs750871105
24 A>T No ClinGen
ExAC
gnomAD
CA372120114
rs1338597478
25 V>M No ClinGen
TOPMed
rs1219166488
CA372120063
26 P>S No ClinGen
TOPMed
CA4862868
rs373197192
27 L>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs751992286
CA184487108
CA184487104
27 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA4862867
rs373197192
27 L>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764350174
CA4862865
28 V>I No ClinGen
ExAC
gnomAD
rs758694226
CA4862864
29 G>D No ClinGen
ExAC
gnomAD
CA372119968
rs1173968960
29 G>S No ClinGen
TOPMed
rs1444367657
CA372119946
30 K>E No ClinGen
TOPMed
rs765222212
CA4862862
34 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs765222212
CA372119872
34 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1258327778
CA372119849
35 S>G No ClinGen
gnomAD
rs369452020
CA372119825
36 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4862860
rs776404346
36 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs369452020
CA4862861
36 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA184487072
rs944425567
38 Y>C No ClinGen
TOPMed
CA372119789
rs11551730
39 L>F No ClinGen
gnomAD
CA372119785
rs1196874522
39 L>P No ClinGen
gnomAD
CA4862858
rs760414753
41 L>F No ClinGen
ExAC
gnomAD
rs773004585
CA4862857
41 L>R No ClinGen
ExAC
gnomAD
CA372119745
rs1467736246
42 W>R No ClinGen
TOPMed
rs1007797134
CA184487028
43 P>L No ClinGen
TOPMed
gnomAD
rs1293411526
CA372119723
43 P>S No ClinGen
TOPMed
gnomAD
rs1293411526
CA372119728
43 P>T No ClinGen
TOPMed
gnomAD
rs1586476186
CA372119704
44 E>A No ClinGen
Ensembl
rs903522937
CA184486994
44 E>K No ClinGen
TOPMed
CA372119691
rs1330879821
45 A>T No ClinGen
gnomAD
CA372119678
rs1391889823
45 A>V No ClinGen
gnomAD
rs376163583
CA4862854
46 F>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1009693355
CA184486987
50 F>V No ClinGen
gnomAD
rs775066796
CA4862833
52 I>T No ClinGen
ExAC
gnomAD
CA4862831
rs747509219
53 W>C No ClinGen
ExAC
TOPMed
rs769491992
CA4862832
53 W>L No ClinGen
ExAC
TOPMed
CA4862830
rs778478169
57 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs778955625
CA4862827
58 A>P No ClinGen
ExAC
gnomAD
CA4862828
rs778955625
58 A>T No ClinGen
ExAC
gnomAD
CA4862826
rs755243736
59 T>A No ClinGen
ExAC
gnomAD
rs1285771566
CA372115301
63 P>S No ClinGen
gnomAD
COSM1644543
CA4862825
rs753793629
65 G>C salivary_gland [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs780179797
CA4862824
65 G>D No ClinGen
ExAC
gnomAD
CA4862820
rs761546720
77 Y>C No ClinGen
ExAC
gnomAD
rs751380124
CA4862819
78 F>L No ClinGen
ExAC
gnomAD
CA184478026
rs374946326
79 L>V No ClinGen
ESP
TOPMed
CA372114532
rs1486576035
80 Y>H No ClinGen
TOPMed
CA372114434
rs1347146125
81 Q>R No ClinGen
gnomAD
CA372114267
rs1190916416
84 T>M No ClinGen
TOPMed
rs564730174
COSM461493
CA4862817
85 R>* cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs536205480
CA372114219
85 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs536205480
CA4862816
85 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs370493545
CA4862813
88 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4862800
rs751513605
90 A>G No ClinGen
ExAC
gnomAD
rs751513605
CA372111845
90 A>V No ClinGen
ExAC
gnomAD
CA372111796
rs1320323823
93 G>W No ClinGen
TOPMed
gnomAD
CA372111680
rs1236882453
98 Y>C No ClinGen
TOPMed
gnomAD
CA372111687
rs1485693919
98 Y>N No ClinGen
gnomAD
rs768881035 99 L>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs765016394
CA4862795
101 M>I No ClinGen
ExAC
gnomAD
CA184474482
rs745793332
101 M>T No ClinGen
TOPMed
rs374118585
CA4862796
101 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759071104
CA4862794
102 L>F No ClinGen
ExAC
gnomAD
CA372111559
rs1295237031
103 L>R No ClinGen
gnomAD
TCGA novel 108 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1355484846
CA372111388
110 V>A No ClinGen
gnomAD
rs762376992
CA4862791
110 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1336467423
CA372111166
112 T>S No ClinGen
TOPMed
rs1216455462
CA372111155
113 G>S No ClinGen
TOPMed
rs1480870541
CA372111101
116 M>V No ClinGen
TOPMed
CA372111072
rs1018535591
117 D>G No ClinGen
TOPMed
gnomAD
CA184473557
rs1018535591
117 D>V No ClinGen
TOPMed
gnomAD
rs866862635
CA184473553
118 M>L No ClinGen
Ensembl
CA372111043
rs1441864457
119 Q>K No ClinGen
TOPMed
rs565379842
CA4862761
122 M>V No ClinGen
1000Genomes
ExAC
gnomAD
CA4862760
rs778848135
125 L>V No ClinGen
ExAC
gnomAD
CA372109529
rs1396676708
126 I>T No ClinGen
gnomAD
CA4862755
rs766889550
131 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs141463243
CA4862756
131 Y>H No ClinGen
ESP
ExAC
TOPMed
CA184472753
rs969810276
136 L>V No ClinGen
Ensembl
CA372109203
rs1488695272
138 R>G No ClinGen
gnomAD
rs1397214421
CA372109089
140 M>I No ClinGen
TOPMed
rs776029927
CA4862752
140 M>V No ClinGen
ExAC
gnomAD
rs765561360
CA4862751
141 I>S No ClinGen
ExAC
gnomAD
CA372108999
rs776797591
143 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA4862749
rs776797591
143 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs908963295
CA184472721
149 R>Q No ClinGen
TOPMed
gnomAD
rs984583610
CA184472714
151 K>R No ClinGen
gnomAD
rs762024897
CA4862723
153 C>S No ClinGen
ExAC
gnomAD
rs146414335
CA4862722
154 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146414335
CA184471949
154 Y>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA184471948
rs371727228
158 V>F No ClinGen
ESP
TCGA novel 160 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4862719
rs749024059
161 G>E No ClinGen
ExAC
gnomAD
rs779709272
CA4862718
163 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs769685055
CA4862717
164 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA4862716
rs745483518
165 I>L No ClinGen
ExAC
gnomAD
rs1357852801
CA372107902
166 I>V No ClinGen
gnomAD
CA4862714
rs756713761
COSM1095682
169 S>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4862698
rs2272722
VAR_019516
171 I>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs200376396
CA4862697
172 N>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 176 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA372106952
rs1403733239
179 V>I No ClinGen
gnomAD
rs200467011
CA184470435
182 L>I No ClinGen
1000Genomes
TCGA novel
CA372106604
rs1586458468
187 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
CA4862695
rs770586414
187 M>T No ClinGen
ExAC
gnomAD
rs1586458466
CA372106554
189 R>K No ClinGen
Ensembl
CA4862694
rs550182260
190 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
rs372267337
CA4862693
192 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4862692
rs571672566
194 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs780652342
CA4862690
195 G>* No ClinGen
ExAC
gnomAD
TCGA novel 198 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA372106229
rs1246979062
198 N>I No ClinGen
gnomAD
CA372106196
rs1338624131
199 F>S No ClinGen
TOPMed
CA4862689
rs200911646
200 L>I No ClinGen
1000Genomes
ExAC
gnomAD
rs767779165
CA4862687
200 L>P No ClinGen
ExAC
gnomAD
CA4862685
rs751887904
202 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs139154983
CA4862684
203 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs561331450
CA4862683
204 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs765021552
CA4862661
208 R>C No ClinGen
ExAC
gnomAD
rs141975370
CA4862660
208 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4862659
rs753835312
209 W>R No ClinGen
ExAC
gnomAD
rs1278112602
CA372104372
211 P>R No ClinGen
TOPMed
rs1271445081
CA372104341
213 R>G No ClinGen
TOPMed
CA372104312
rs1438101280
213 R>S No ClinGen
gnomAD
CA4862656
rs377395425
215 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA184468226
rs938385519
217 V>I No ClinGen
TOPMed
gnomAD
CA372104052
rs1198249688
222 V>L No ClinGen
TOPMed
gnomAD
CA372104055
rs1198249688
222 V>M No ClinGen
TOPMed
gnomAD
rs771781123
CA4862654
223 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1314875568 224 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs973758787
CA184468213
224 P>R No ClinGen
TOPMed
gnomAD
CA4862653
rs761159619
225 A>P No ClinGen
ExAC
CA4862652
rs773906113
226 S>G No ClinGen
ExAC
gnomAD
COSM3382053
CA4862650
rs746354501
227 M>T pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA4862651
rs768107833
227 M>V No ClinGen
ExAC
gnomAD
COSM1203404
rs1449530519
CA372103880
229 R>* large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA4862649
rs781773566
229 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1331613927
CA372103820
231 A>P No ClinGen
gnomAD
CA4862648
rs771378929
233 Q>E No ClinGen
ExAC
gnomAD
rs1352283961
CA372103748
233 Q>R No ClinGen
gnomAD
rs747396883
CA4862647
234 N>H No ClinGen
ExAC
gnomAD
CA184468190
rs948575070
234 N>S No ClinGen
Ensembl
rs71514794
CA184468188
236 G>E No ClinGen
Ensembl
CA4862645
rs145513704
236 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779040155
CA4862643
238 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA372103549
rs1586455872
239 R>G No ClinGen
Ensembl
rs149704655
CA372103503
240 H>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4862642
rs149704655
240 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA372103517
rs1173357357
240 H>Y No ClinGen
TOPMed
rs1456575352
CA372103471
241 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA372103417
rs1586455839
242 W>C No ClinGen
Ensembl
CA4862640
rs553707578
243 G>V No ClinGen
1000Genomes
ExAC
gnomAD
CA4862638
rs750233509
247 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1378125719
CA372103271
247 R>Q No ClinGen
TOPMed
gnomAD
rs1372615690
CA372103261
248 L>F No ClinGen
gnomAD
CA4862637
rs767281160
248 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA372103252
rs767281160
248 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA372103193
rs1370773994
250 D>A No ClinGen
gnomAD
CA372103190
rs1370773994
250 D>G No ClinGen
gnomAD
rs761512599
CA4862636
251 Q>R No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with Q9BUN8

No regional properties for Q9BUN8

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9BUN8

Functions

Description
EC Number
Subcellular Localization
  • Endoplasmic reticulum membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

11 GO annotations of cellular component

Name Definition
Derlin-1 retrotranslocation complex A protein complex that functions in the retrotranslocation step of ERAD (ER-associated protein degradation), and includes at its core Derlin-1 oligomers forming a retrotranslocation channel.
Derlin-1-VIMP complex A protein complex containing, in mammals, Derlin-1 and VCP-interacting membrane protein (VIMP). The complex links the p97/VCP-containing ATPase complex with Derlin-1 during translocation of protein substrates from the endoplasmic reticulum to the cytosol for degradation by the cytosolic proteasome.
early endosome A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
endoplasmic reticulum quality control compartment A subcompartment of the endoplasmic reticulum in which proteins with improper or incorrect folding accumulate. Enzymes in this compartment direct proteins with major folding problems to translocation to the cytosol and degradation, and proteins with minor folding problems to the ER, to interact with chaperon proteins.
Hrd1p ubiquitin ligase ERAD-L complex A multiprotein complex that recognizes and ubiquitinates proteins with misfolded luminal domains during ER-associated protein degradation (ERAD). In S. cerevisiae, this complex contains the ubiquitin ligase Hrd1p.
integral component of endoplasmic reticulum membrane The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
late endosome A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

10 GO annotations of molecular function

Name Definition
ATPase binding Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP.
identical protein binding Binding to an identical protein or proteins.
MHC class I protein binding Binding to a major histocompatibility complex class I molecule; a set of molecules displayed on cell surfaces that are responsible for lymphocyte recognition and antigen presentation.
misfolded protein binding Binding to a misfolded protein.
protease binding Binding to a protease or a peptidase.
protein-containing complex binding Binding to a macromolecular complex.
signal recognition particle binding Binding to a signal recognition particle.
signaling receptor activity Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.
ubiquitin protein ligase binding Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.
ubiquitin-specific protease binding Binding to a ubiquitin-specific protease.

10 GO annotations of biological process

Name Definition
endoplasmic reticulum unfolded protein response The series of molecular signals generated as a consequence of the presence of unfolded proteins in the endoplasmic reticulum (ER) or other ER-related stress; results in changes in the regulation of transcription and translation.
ER-associated misfolded protein catabolic process The chemical reactions and pathways resulting in the breakdown of misfolded proteins transported from the endoplasmic reticulum and targeted to cytoplasmic proteasomes for degradation.
ERAD pathway The protein catabolic pathway which targets endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. It begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein modifications necessary for correct substrate transfer (e.g. ubiquitination), transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome.
establishment of protein localization The directed movement of a protein to a specific location.
positive regulation of protein binding Any process that activates or increases the frequency, rate or extent of protein binding.
positive regulation of protein ubiquitination Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein.
protein destabilization Any process that decreases the stability of a protein, making it more vulnerable to degradative processes or aggregation.
response to unfolded protein Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an unfolded protein stimulus.
retrograde protein transport, ER to cytosol The directed movement of unfolded or misfolded proteins from the endoplasmic reticulum to the cytosol through the translocon.
ubiquitin-dependent ERAD pathway The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q4G2J6 DER1.1 Derlin-1.1 Zea mays (Maize) PR
Q4G2J5 DER1.2 Derlin-1.2 Zea mays (Maize) PR
Q93561 cup-2 Derlin-1 Caenorhabditis elegans PR
Q8VZU9 DER1 Derlin-1 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MSDIGDWFRS IPAITRYWFA ATVAVPLVGK LGLISPAYLF LWPEAFLYRF QIWRPITATF
70 80 90 100 110 120
YFPVGPGTGF LYLVNLYFLY QYSTRLETGA FDGRPADYLF MLLFNWICIV ITGLAMDMQL
130 140 150 160 170 180
LMIPLIMSVL YVWAQLNRDM IVSFWFGTRF KACYLPWVIL GFNYIIGGSV INELIGNLVG
190 200 210 220 230 240
HLYFFLMFRY PMDLGGRNFL STPQFLYRWL PSRRGGVSGF GVPPASMRRA ADQNGGGGRH
250
NWGQGFRLGD Q